Varaico: Literature-Extracted Genetic Variants

KCNQ2

955 papers

RefSeq Summary

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protei...

Pfam Domains

Ion_transaa 91–324UCSCIon transport protein

KCNQ_channelaa 448–604UCSCKCNQ voltage-gated potassium channel

KCNQ_channelaa 466–651UCSCKCNQ voltage-gated potassium channel

KCNQ2_u3aa 665–756UCSCUnstructured region on Potassium channel subunit alpha KvLQT2

KCNQC3-Ank-G_bdaa 768–868UCSCAnkyrin-G binding motif of KCNQ2-3

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 2

HGNC Previous Symbols

EBN; EBN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_172107.4

p.F168L

c.504C>G

Surrounding Variants

3 papers

NM_172107.4

p.F168L

c.504C>A

1 paper

NM_172107.4

p.C169R

c.505T>C

2 papers

NM_172107.4

p.F168Y

c.503T>A

3 papers

NM_172107.4

p.F168L

c.502T>C

2 papers

NM_172107.4

p.F168I

c.502T>A

1 paper

NM_172107.4

p.F168fs

c.502_503fs

1 paper

NM_172107.4

p.V170M

c.508G>A

1 paper

NM_172107.4

p.P167L

c.500C>T

1 paper

NM_172107.4

p.R165L

c.494G>T

1 paper

NM_172107.4

p.R165Q

c.494G>A

1 paper

NM_172107.4

p.D172Splc

c.514+1G>A

1 paper

NM_172107.4

p.R165W

c.493C>T